Gitelman′s syndrome: Rare presentation with growth retardation

Abstract

Gitelman's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypokalemia, hypomagnesaemia, hypocalciuria, hyperreninemia and without hypertension. Gitelman's syndrome is caused by mutations of the SLC12A3 gene, which encodes the Na/Cl co-transporter (NCCT) in the distal convoluted tubule. Majority of cases manifest during adolescence or adulthood and growth retardation is not the common feature. We report a rare presentation of Gitelman's syndrome in a four-year-old boy with growth retardation.

Gitelman syndrome combined with growth hormone deficiency

“…[2] In addition, growth retardation was noted in some patients with GS. [3] Although potassium depletion may have some negative effects on growth, the pathogenesis of growth retardation in GS is still unclear. There are few reports on GS combined with growth hormone deficiency (GHD).…”

Comment on Gitelman′s syndrome: Rare presentation with growth retardation

“…We read with interest the article “Gitelman's syndrome (GS): Rare presentation with growth retardation”. [ 1 ]…”